On Wednesday, we challenged Well readers to really think like a doctor. We asked you to figure out the diagnosis for a young woman with longstanding pain and other ills and to design the testing strategy necessary to reach that diagnosis — to do, in short, what every doctor has to do in order to make a diagnosis.
The response was fantastic. Over 400 of you wrote in with suggestions of possible diagnoses as well as the medical tests needed to get there.
The correct diagnosis is …
Celiac disease, also known as gluten-sensitive enteropathy
This was a challenging case, but the right test was requested at 1:39 a.m. — just a couple of hours after the case was posted. Hats off to EGH from Arizona for asking for the key test used to help diagnose celiac disease. Several of you were interested in celiac, but it was Jan from Madison, N.J., who wholeheartedly put her money down on this as the diagnosis.
How the Diagnosis Was Made:
Test results started to trickle in days after Dr. Podell spoke with the patient. First the patient’s doctor in Ohio sent copies of her office visits, as well as labs, studies and consult reports from the past two years. Over that time she had seen a couple of pain specialists, a gastroenterologist and an allergist. She’d been scoped, X-rayed and CAT scanned. She’d been stuck for blood and pricked for allergy tests. Most of the tests were unrevealing. But, amid all the normal tests, two stood out. In 2009, she had been tested for celiac disease: two blood tests were performed, and both were positive.
A few days later, results from tests that Dr. Podell had ordered started to arrive. Again, most were unrevealing. She didn’t have any evidence of an inflammatory muscle or joint disease; she didn’t have hepatitis B or C; there was no evidence of thyroid disease or liver disease or muscle disease. She didn’t have Lyme disease or lupus or H.I.V. infection.
What she did have were remarkably high levels of the two antibodies associated with celiac disease. Still, a positive blood test is not a diagnosis. She had also been evaluated by a gastroenterologist who had looked at her upper and lower gastrointestinal track and found nothing. Despite that, Dr. Podell’s suspicion for celiac disease remained high.
You can view the patient’s various test results in the document below; click on the link on the lower left for a full-page view.
The Office Visit:
Three weeks after they spoke on the phone, the patient arrived in Dr. Podell’s office in Middlebury, Conn., with her mother and sister. When Dr. Podell entered the room, the sister hugged him and then introduced him to the patient and their mother. Dr. Podell is a small man with an inviting smile and big brown eyes. As they exchanged pleasantries about her trip to Connecticut, Dr. Podell quietly began his examination.
The first thing he noticed was that the patient, at under five feet tall, was much smaller than her sister and mother. Otherwise she looked well. The doctor sat down, crossed his legs and said to the three women, “Tell me about this, from the beginning.” He looked, both patient and sister later told me, as if he had all the time in the world.
The women agreed that the patient’s childhood had been pretty normal. The pain didn’t really start until she reached her teenage years, when she developed this odd ache between her shoulder blades. In her 20s she had breast reduction surgery, thinking that the weight of her large breasts was causing the upper back pain. But after the surgery, the pain did not ease. Eventually she had pain all over her body: diffuse muscle aches, migraines, irritable bowel syndrome, endometriosis. Her condition became even worse at the time of her first pregnancy, when she had to spend much of her time in bed. And she’d been in and out of bed ever since.
Dr. Podell left the patient’s room to allow her to change into a gown for the physical examination. Back in his office, he quickly read up on the clinical findings associated with celiac disease. He recalled that short stature, as well as abdominal pain and diarrhea, were associated with the condition. What else? The list of other problems seen in patients with celiac was long: neuropathic pain (she had that), headaches (she had that), psychiatric disorders (she had a long history of depression), iron deficiency and vitamin D deficiency (she’d been treated for both in the past).
The patient’s exam was mostly normal, except that everywhere he touched caused pain: muscle pain, and skin pain. Her joints were fine; there was no swelling or pain when he moved them. But she winced when he examined her muscles. They felt tired and sore, she told him. Touching her skin produced a burning sensation and the feeling of pins and needles, as if her skin was somehow asleep.
He asked her if she had ever tried a gluten-free diet. She told him she had tried that a couple of years ago, giving up bread and pasta, but she didn’t notice any change, so her doctor said not to worry about it. She had returned to her usual diet.
Dr. Podell smiled. If the woman had already tried a gluten-free diet and hadn’t improved, then that made celiac disease very unlikely. But after listening to her, it was clear that she hadn’t really tried it. A gluten-free diet means just that: getting rid of all foods that contain gluten, a type of protein found in most grains, cereals and breads. It can also be found in soups, sauces, beverages, spices, marinades and even medications, making it challenging to eliminate entirely. And it typically takes weeks, not days, for symptoms to improve. This was celiac disease; he’d bet on it.
You can read Dr. Podell’s Consult note in the document viewer below; click on the lower-left for a full-page view.
The Diagnosis:
Celiac disease, a disease of the small intestine that causes malabsorption, has long been with us; it was first described in the second century A.D. by a Greek physician named Aretaeus. The link between its symptoms, including episodic pain and diarrhea, and diet was noted during World War II, when children with the disease improved after rationing caused flour-containing products to be replaced with non-cereal containing foods. After the war, researchers proved a definitive link.
It’s not well understood why this occurs. What is known is that people who are genetically predisposed to celiac disease can develop antibodies that attack the lining of the small intestine when they are exposed to gluten. The diagnosis can be confirmed by a biopsy of the small intestine to look for this damage.
Once the absorptive lining is destroyed, the small intestine can’t do its job of taking up the nutrients from the food we eat. When this happens, many — but not all — patients experience bloating, diarrhea and malabsorption. This patient had some of the digestive symptoms, but mostly she had other types of pain, including nerve pain, muscle pain, headaches and depression. All can occur in patients with celiac disease, though the underlying cause is unknown.
The Patient’s Story:
The patient met with a nutritionist and learned the fundamentals of a gluten-free diet. Even small amounts of the protein can trigger small bowel damage, so Dr. Podell thought that understanding how to avoid this near ubiquitous ingredient was essential to her recovery.
The patient has been on a gluten-free diet for a couple of months at this point and feels much better. She has more energy and less pain. And she’s back at work – not quite full time, but getting there. It took a while for her to figure out how to eat and, she tells me, the diet is a little monotonous, but the improvement in how she feels makes it worthwhile. She had her daughter tested, and she tested positive for celiac as well.
I asked Dr. Podell if he had any thoughts as to why the patient did so much better after he had given her a diagnosis of celiac disease compared to when she had been given this diagnosis two years earlier. Based on how the patient had explained it, Dr. Podell said he thought that her doctors didn’t really think she had celiac, and so she didn’t think she had it either.
“I was very enthusiastic about this diagnosis, and I thought she really, really had it,” he said. “So maybe it was the nonscientific component, the salesmanship, that made her try and stay with the diet.”
That sounds right to me. This case is a reminder of an important precept in medicine: that a diagnosis isn’t really final until the whole thing makes sense to the patient as well as to the doctor. That’s the real art of diagnosis, and an essential part of the cure.
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